TH - Tyrosine 3-monooxygenase - Homo sapiens (Human)

Functionⁱ

Plays an important role in the physiology of adrenergic neurons.

Catalytic activityⁱ

L-tyrosine + tetrahydrobiopterin + O₂ = L-dopa + 4a-hydroxytetrahydrobiopterin.

Cofactorⁱ

Fe²⁺

Activity regulationⁱ

Phosphorylation leads to an increase in the catalytic activity.

Pathwayⁱ: dopamine biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes dopamine from L-tyrosine.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:

Tyrosine 3-monooxygenase (TH)
Aromatic-L-amino-acid decarboxylase (DDC)

This subpathway is part of the pathway dopamine biosynthesis, which is itself part of Catecholamine biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes dopamine from L-tyrosine, the pathway dopamine biosynthesis and in Catecholamine biosynthesis.

Sites

Feature key	Position(s)	DescriptionActions	Length
Metal bindingⁱ	361	IronBy similarity	1
Metal bindingⁱ	366	IronBy similarity	1
Metal bindingⁱ	406	IronBy similarity	1

GO - Molecular functionⁱ

amino acid binding Source: Ensembl
dopamine binding Source: Ensembl
enzyme binding
Source: ParkinsonsUK-UCL
Inferred from physical interactionⁱ
- 19703902
ferric iron binding Source: Ensembl
ferrous iron binding Source: Ensembl
oxygen binding Source: Ensembl
protein domain specific binding Source: Ensembl
tetrahydrobiopterin binding Source: Ensembl
tyrosine 3-monooxygenase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 16338639

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

aminergic neurotransmitter loading into synaptic vesicle Source: Ensembl
anatomical structure morphogenesis
Source: ProtInc
Traceable author statementⁱ
- 7715703
animal organ morphogenesis Source: BHF-UCL
catecholamine biosynthetic process Source: Reactome
cellular response to alkaloid Source: Ensembl
cellular response to glucose stimulus Source: Ensembl
cellular response to growth factor stimulus Source: Ensembl
cellular response to manganese ion Source: Ensembl
cellular response to nicotine Source: Ensembl
cerebral cortex development Source: Ensembl
circadian sleep/wake cycle Source: Ensembl
dopamine biosynthetic process
Source: BHF-UCL
Inferred from direct assayⁱ
- 12457228
dopamine biosynthetic process from tyrosine
Source: BHF-UCL
Non-traceable author statementⁱ
- 10907721
eating behavior Source: Ensembl
embryonic camera-type eye morphogenesis Source: BHF-UCL
epinephrine biosynthetic process
Source: BHF-UCL
Inferred from direct assayⁱ
- 12457228
eye photoreceptor cell development Source: BHF-UCL
fatty acid metabolic process Source: Ensembl
glycoside metabolic process Source: Ensembl
heart development Source: BHF-UCL
heart morphogenesis
Source: BHF-UCL
Non-traceable author statementⁱ
- 12113410
isoquinoline alkaloid metabolic process Source: Ensembl
learning Source: BHF-UCL
locomotory behavior Source: BHF-UCL
mating behavior Source: Ensembl
memory Source: BHF-UCL
multicellular organism aging Source: Ensembl
neurotransmitter biosynthetic process Source: UniProtKB-KW
norepinephrine biosynthetic process
Source: BHF-UCL
Inferred from direct assayⁱ
- 12457228
phthalate metabolic process Source: Ensembl
phytoalexin metabolic process Source: Ensembl
pigmentation
Source: BHF-UCL
Traceable author statementⁱ
- 12631248
regulation of heart contraction Source: BHF-UCL
response to activity Source: Ensembl
response to amphetamine Source: Ensembl
response to corticosterone Source: Ensembl
response to electrical stimulus Source: Ensembl
response to estradiol Source: Ensembl
response to ethanol
Source: BHF-UCL
Inferred from direct assayⁱ
- 18343820
response to ether Source: Ensembl
response to herbicide Source: Ensembl
response to hypoxia
Source: BHF-UCL
Inferred from direct assayⁱ
- 17520326
response to immobilization stress Source: Ensembl
response to isolation stress Source: Ensembl
response to light stimulus Source: Ensembl
response to lipopolysaccharide Source: Ensembl
response to nutrient levels Source: Ensembl
response to peptide hormone Source: Ensembl
response to pyrethroid Source: Ensembl
response to salt stress Source: Ensembl
response to water deprivation Source: Ensembl
response to zinc ion Source: Ensembl
sensory perception of sound Source: Ensembl
social behavior Source: Ensembl
sphingolipid metabolic process Source: Ensembl
synaptic transmission, dopaminergic Source: BHF-UCL
terpene metabolic process Source: Ensembl
visual perception Source: BHF-UCL

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Monooxygenase, Oxidoreductase
Biological process	Catecholamine biosynthesis, Neurotransmitter biosynthesis
Ligand	Iron, Metal-binding

Enzyme and pathway databases

BRENDAⁱ	1.14.16.2 2681
Reactomeⁱ	R-HSA-209905 Catecholamine biosynthesis
SIGNORⁱ	P07101
UniPathwayⁱ	UPA00747;UER00733

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Tyrosine 3-monooxygenase (EC:1.14.16.2) Alternative name(s): Tyrosine 3-hydroxylase Short name: TH
Gene namesⁱ	Name:TH Synonyms:TYH
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 11

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000180176.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11782 TH
MIMⁱ	191290 gene
neXtProtⁱ	NX_P07101

Subcellular locationⁱ

GO - Cellular component

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Segawa syndrome autosomal recessive (ARSEGS)23 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_072863	207	C → Y in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072864	227	D → G in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_014026	233	R → H in ARSEGS; loss of over 80% of tyrosine hydroxylase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa. 4 PublicationsCorresponds to variant dbSNP:rs80338892EnsemblClinVar.	1
Natural variantⁱVAR_014027	236	L → P in ARSEGS; severe parkinsonian symptoms in early infancy; strongly reduced stability and catalytic activity; rare mutation. 3 PublicationsCorresponds to variant dbSNP:rs121917763EnsemblClinVar.	1
Natural variantⁱVAR_072865	241	A → T in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072866	246	H → Y in ARSEGS; loss of about 40% of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072867	247	G → S in ARSEGS; loss of about 50% of tyrosine hydroxylase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa. 2 PublicationsCorresponds to variant dbSNP:rs762304556Ensembl.	1
Natural variantⁱVAR_071715	251	P → L in ARSEGS. 1 Publication	1
Natural variantⁱVAR_072868	259	E → G in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_014028	276	T → P in ARSEGS; parkinsonian symptoms in infancy; no effect on tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs28934581EnsemblClinVar.	1
Natural variantⁱVAR_071716	279	C → F in ARSEGS. 1 Publication	1
Natural variantⁱVAR_072869	294	G → R in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs755536257EnsemblClinVar.	1
Natural variantⁱVAR_071717	296	R → Q in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs199961079Ensembl.	1
Natural variantⁱVAR_072870	301	P → A in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072871	309	F → S in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_014029	314	T → M in ARSEGS; parkinsonian symptoms in infancy; loss of about 80% of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs121917764EnsemblClinVar.	1
Natural variantⁱVAR_071718	315	G → S in ARSEGS. 2 PublicationsCorresponds to variant dbSNP:rs1288483479Ensembl.	1
Natural variantⁱVAR_072872	319	R → P in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072873	328	R → W in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_014030	337	R → H in ARSEGS; parkinsonian symptoms in infancy; no effect on tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs28934580EnsemblClinVar.	1
Natural variantⁱVAR_072874	359	C → F in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs121917765EnsemblClinVar.	1
Natural variantⁱVAR_072875	375	F → L in ARSEGS; loss of over 80% of tyrosine hydroxylase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa. 2 Publications	1
Natural variantⁱVAR_072876	376	A → V in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_071719	382	I → T in ARSEGS. 1 Publication	1
Natural variantⁱVAR_072877	385	A → V in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs763039181Ensembl.	1
Natural variantⁱVAR_072878	387	L → M in ARSEGS; no effect on tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072879	394	I → T in ARSEGS; complete loss of tyrosine hydroxylase activity. 3 Publications	1
Natural variantⁱVAR_072880	399	T → M in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs1057520384Ensembl.	1
Natural variantⁱVAR_072881	408	G → R in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs745551241EnsemblClinVar.	1
Natural variantⁱVAR_014031	412	Q → K in ARSEGS; loss of over 80% of tyrosine hydroxylase activity; reduced affinity for L-tyrosine. 3 PublicationsCorresponds to variant dbSNP:rs121917762EnsemblClinVar.	1
Natural variantⁱVAR_072882	414	G → R in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 3 PublicationsCorresponds to variant dbSNP:rs370962049Ensembl.	1
Natural variantⁱVAR_071720	428	G → R in ARSEGS; phenotype with prominent levodopa-responsive myoconus-dystonia (M-D). 2 Publications	1
Natural variantⁱVAR_072883	441	R → P in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs367874223Ensembl.	1
Natural variantⁱVAR_072884	467	S → G in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072885	492	P → L in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs767635052Ensembl.	1
Natural variantⁱVAR_014032	494	T → M in ARSEGS; parkinsonian symptoms in infancy; no effect on tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs45471299EnsemblClinVar.	1
Natural variantⁱVAR_072886	498	D → G in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 4 PublicationsCorresponds to variant dbSNP:rs771351747Ensembl.	1
Natural variantⁱVAR_072887	510	L → Q in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications	1

Keywords - Diseaseⁱ

Disease mutation, Dystonia, Parkinson disease, Parkinsonism

Organism-specific databases

DisGeNET More...DisGeNETⁱ	7054
GeneReviewsⁱ	TH
MalaCards human disease database More...MalaCardsⁱ	TH
MIMⁱ	605407 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000180176
Orphanetⁱ	101150 Autosomal recessive dopa-responsive dystonia
PharmGKBⁱ	PA351

Chemistry databases

ChEMBLⁱ	CHEMBL1969
Drug and drug target database More...DrugBankⁱ	DB00120 L-Phenylalanine DB00135 L-Tyrosine DB03552 Meta-Tyrosine DB00765 Metyrosine DB00360 Sapropterin

Polymorphism and mutation databases

BioMutaⁱ	TH
DMDMⁱ	239938945

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000205561	1 – 528	Tyrosine 3-monooxygenaseAdd BLAST		528

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	19	Phosphoserine; by CaMK21 Publication	1
Modified residueⁱ	62	PhosphoserineBy similarity	1
Modified residueⁱ	71	Phosphoserine; by CaMK2 and PKA1 Publication	1
Modified residueⁱ	502	PhosphoserineBy similarity	1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

PaxDbⁱ	P07101
PeptideAtlas More...PeptideAtlasⁱ	P07101
PRIDEⁱ	P07101
ProteomicsDBⁱ	51950 51951 [P07101-2] 51952 [P07101-3] 51953 [P07101-4]

PTM databases

iPTMnetⁱ	P07101
PhosphoSitePlusⁱ	P07101

Expressionⁱ

Tissue specificityⁱ

Mainly expressed in the brain and adrenal glands.

Gene expression databases

Bgeeⁱ	ENSG00000180176 Expressed in 85 organ(s), highest expression level in substantia nigra
CleanExⁱ	HS_TH
ExpressionAtlasⁱ	P07101 baseline and differential
Genevisibleⁱ	P07101 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB002522 CAB072340 HPA013768 HPA061003

HPAⁱ

CAB002522
CAB072340
HPA013768
HPA061003

Interactionⁱ

GO - Molecular functionⁱ

enzyme binding
Source: ParkinsonsUK-UCL
Inferred from physical interactionⁱ
- 19703902
protein domain specific binding Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	112912, 13 interactors
ELMⁱ	P07101
IntActⁱ	P07101, 14 interactors
Molecular INTeraction database More...MINTⁱ	P07101
STRINGⁱ	9606.ENSP00000370571

Chemistry databases

BindingDBⁱ

P07101

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	201 – 206	Combined sources	6
Turnⁱ	216 – 218	Combined sources	3
Turnⁱ	223 – 226	Combined sources	4
Helixⁱ	228 – 243	Combined sources	16
Helixⁱ	257 – 277	Combined sources	21
Helixⁱ	280 – 292	Combined sources	13
Helixⁱ	303 – 314	Combined sources	12
Beta strandⁱ	317 – 320	Combined sources	4
Helixⁱ	327 – 334	Combined sources	8
Turnⁱ	335 – 337	Combined sources	3
Beta strandⁱ	338 – 341	Combined sources	4
Helixⁱ	359 – 365	Combined sources	7
Helixⁱ	367 – 370	Combined sources	4
Helixⁱ	373 – 386	Combined sources	14
Helixⁱ	391 – 403	Combined sources	13
Turnⁱ	404 – 407	Combined sources	4
Beta strandⁱ	409 – 412	Combined sources	4
Beta strandⁱ	415 – 418	Combined sources	4
Helixⁱ	421 – 424	Combined sources	4
Helixⁱ	427 – 433	Combined sources	7
Beta strandⁱ	435 – 442	Combined sources	8
Helixⁱ	445 – 449	Combined sources	5
Beta strandⁱ	455 – 457	Combined sources	3
Beta strandⁱ	460 – 466	Combined sources	7
Helixⁱ	468 – 480	Combined sources	13
Beta strandⁱ	485 – 491	Combined sources	7
Turnⁱ	492 – 495	Combined sources	4
Beta strandⁱ	496 – 500	Combined sources	5
Helixⁱ	503 – 526	Combined sources	24

Show more details

3D structure databases

ProteinModelPortalⁱ	P07101
SMRⁱ	P07101
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	85 – 90	Poly-Ala		6

Sequence similaritiesⁱ

Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.Curated

Phylogenomic databases

eggNOGⁱ	KOG3820 Eukaryota COG3186 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000010268
HOGENOMⁱ	HOG000233373
HOVERGENⁱ	HBG006841
InParanoidⁱ	P07101
KEGG Orthology (KO) More...KOⁱ	K00501
OMAⁱ	PHLEYFV
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G05MZ
PhylomeDBⁱ	P07101
TreeFamⁱ	TF313327

Family and domain databases

Gene3Dⁱ	1.10.800.10, 1 hit
InterProⁱ	View protein in InterPro IPR001273 ArAA_hydroxylase IPR018301 ArAA_hydroxylase_Fe/CU_BS IPR036951 ArAA_hydroxylase_sf IPR036329 Aro-AA_hydroxylase_C_sf IPR019774 Aromatic-AA_hydroxylase_C IPR005962 Tyr_3_mOase IPR019773 Tyrosine_3-monooxygenase-like IPR021164 Tyrosine_hydroxylase_CS
PANTHERⁱ	PTHR11473 PTHR11473, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00351 Biopterin_H, 1 hit PF12549 TOH_N, 3 hits
PIRSFⁱ	PIRSF000336 TH, 1 hit
PRINTSⁱ	PR00372 FYWHYDRXLASE
SUPFAMⁱ	SSF56534 SSF56534, 1 hit
TIGRFAMsⁱ	TIGR01269 Tyr_3_monoox, 1 hit
PROSITEⁱ	View protein in PROSITE PS00367 BH4_AAA_HYDROXYL_1, 1 hit PS51410 BH4_AAA_HYDROXYL_2, 1 hit

Sequences (6+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 6 isoformsⁱ produced by alternative splicing. Align Add to basket

Note: TH transcripts lacking exons 8 and 9 present concomitant splicing in exons 1b and 2.

This entry has 6 described isoforms and 4 potential isoforms that are computationally mapped.Show all Align All

Isoform 3 (identifier: P07101-1) [UniParc]FASTA Add to basket

Also known as: TH type 4

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPTPDATTPQ AKGFRRAVSE LDAKQAEAIM VRGQGAPGPS LTGSPWPGTA 
        60         70         80         90        100
APAASYTPTP RSPRFIGRRQ SLIEDARKER EAAVAAAAAA VPSEPGDPLE 
       110        120        130        140        150
AVAFEEKEGK AVLNLLFSPR ATKPSALSRA VKVFETFEAK IHHLETRPAQ 
       160        170        180        190        200
RPRAGGPHLE YFVRLEVRRG DLAALLSGVR QVSEDVRSPA GPKVPWFPRK 
       210        220        230        240        250
VSELDKCHHL VTKFDPDLDL DHPGFSDQVY RQRRKLIAEI AFQYRHGDPI 
       260        270        280        290        300
PRVEYTAEEI ATWKEVYTTL KGLYATHACG EHLEAFALLE RFSGYREDNI 
       310        320        330        340        350
PQLEDVSRFL KERTGFQLRP VAGLLSARDF LASLAFRVFQ CTQYIRHASS 
       360        370        380        390        400
PMHSPEPDCC HELLGHVPML ADRTFAQFSQ DIGLASLGAS DEEIEKLSTL 
       410        420        430        440        450
YWFTVEFGLC KQNGEVKAYG AGLLSSYGEL LHCLSEEPEI RAFDPEAAAV 
       460        470        480        490        500
QPYQDQTYQS VYFVSESFSD AKDKLRSYAS RIQRPFSVKF DPYTLAIDVL 
       510        520 
DSPQAVRRSL EGVQDELDTL AHALSAIG

Length:528

Mass (Da):58,600

Last modified:June 16, 2009 - v5

Checksum:ⁱ31D2D49955ACF070

GO

Isoform 1 (identifier: P07101-2) [UniParc]FASTA Add to basket

Also known as: TH type 3

The sequence of this isoform differs from the canonical sequence as follows:
31-34: Missing.

« Hide

        10         20         30         40         50
MPTPDATTPQ AKGFRRAVSE LDAKQAEAIM GAPGPSLTGS PWPGTAAPAA 
        60         70         80         90        100
SYTPTPRSPR FIGRRQSLIE DARKEREAAV AAAAAAVPSE PGDPLEAVAF 
       110        120        130        140        150
EEKEGKAVLN LLFSPRATKP SALSRAVKVF ETFEAKIHHL ETRPAQRPRA 
       160        170        180        190        200
GGPHLEYFVR LEVRRGDLAA LLSGVRQVSE DVRSPAGPKV PWFPRKVSEL 
       210        220        230        240        250
DKCHHLVTKF DPDLDLDHPG FSDQVYRQRR KLIAEIAFQY RHGDPIPRVE 
       260        270        280        290        300
YTAEEIATWK EVYTTLKGLY ATHACGEHLE AFALLERFSG YREDNIPQLE 
       310        320        330        340        350
DVSRFLKERT GFQLRPVAGL LSARDFLASL AFRVFQCTQY IRHASSPMHS 
       360        370        380        390        400
PEPDCCHELL GHVPMLADRT FAQFSQDIGL ASLGASDEEI EKLSTLYWFT 
       410        420        430        440        450
VEFGLCKQNG EVKAYGAGLL SSYGELLHCL SEEPEIRAFD PEAAAVQPYQ 
       460        470        480        490        500
DQTYQSVYFV SESFSDAKDK LRSYASRIQR PFSVKFDPYT LAIDVLDSPQ 
       510        520 
AVRRSLEGVQ DELDTLAHAL SAIG

Show »

Length:524

Mass (Da):58,160

Checksum:ⁱ708422BBD3304A6C

GO

Isoform 2 (identifier: P07101-3) [UniParc]FASTA Add to basket

Also known as: HTH-1, hTH-Delta1b,2, TH type 1

The sequence of this isoform differs from the canonical sequence as follows:
31-61: Missing.

« Hide

        10         20         30         40         50
MPTPDATTPQ AKGFRRAVSE LDAKQAEAIM SPRFIGRRQS LIEDARKERE 
        60         70         80         90        100
AAVAAAAAAV PSEPGDPLEA VAFEEKEGKA VLNLLFSPRA TKPSALSRAV 
       110        120        130        140        150
KVFETFEAKI HHLETRPAQR PRAGGPHLEY FVRLEVRRGD LAALLSGVRQ 
       160        170        180        190        200
VSEDVRSPAG PKVPWFPRKV SELDKCHHLV TKFDPDLDLD HPGFSDQVYR 
       210        220        230        240        250
QRRKLIAEIA FQYRHGDPIP RVEYTAEEIA TWKEVYTTLK GLYATHACGE 
       260        270        280        290        300
HLEAFALLER FSGYREDNIP QLEDVSRFLK ERTGFQLRPV AGLLSARDFL 
       310        320        330        340        350
ASLAFRVFQC TQYIRHASSP MHSPEPDCCH ELLGHVPMLA DRTFAQFSQD 
       360        370        380        390        400
IGLASLGASD EEIEKLSTLY WFTVEFGLCK QNGEVKAYGA GLLSSYGELL 
       410        420        430        440        450
HCLSEEPEIR AFDPEAAAVQ PYQDQTYQSV YFVSESFSDA KDKLRSYASR 
       460        470        480        490 
IQRPFSVKFD PYTLAIDVLD SPQAVRRSLE GVQDELDTLA HALSAIG

Show »

Length:497

Mass (Da):55,612

Checksum:ⁱ6CB8EDC9C4874288

GO

Isoform 4 (identifier: P07101-4) [UniParc]FASTA Add to basket

Also known as: hTH-Delta2, TH type 2

The sequence of this isoform differs from the canonical sequence as follows:
35-61: Missing.

« Hide

        10         20         30         40         50
MPTPDATTPQ AKGFRRAVSE LDAKQAEAIM VRGQSPRFIG RRQSLIEDAR 
        60         70         80         90        100
KEREAAVAAA AAAVPSEPGD PLEAVAFEEK EGKAVLNLLF SPRATKPSAL 
       110        120        130        140        150
SRAVKVFETF EAKIHHLETR PAQRPRAGGP HLEYFVRLEV RRGDLAALLS 
       160        170        180        190        200
GVRQVSEDVR SPAGPKVPWF PRKVSELDKC HHLVTKFDPD LDLDHPGFSD 
       210        220        230        240        250
QVYRQRRKLI AEIAFQYRHG DPIPRVEYTA EEIATWKEVY TTLKGLYATH 
       260        270        280        290        300
ACGEHLEAFA LLERFSGYRE DNIPQLEDVS RFLKERTGFQ LRPVAGLLSA 
       310        320        330        340        350
RDFLASLAFR VFQCTQYIRH ASSPMHSPEP DCCHELLGHV PMLADRTFAQ 
       360        370        380        390        400
FSQDIGLASL GASDEEIEKL STLYWFTVEF GLCKQNGEVK AYGAGLLSSY 
       410        420        430        440        450
GELLHCLSEE PEIRAFDPEA AAVQPYQDQT YQSVYFVSES FSDAKDKLRS 
       460        470        480        490        500
YASRIQRPFS VKFDPYTLAI DVLDSPQAVR RSLEGVQDEL DTLAHALSAI 

G

Show »

Length:501

Mass (Da):56,052

Checksum:ⁱB614295B9CB2921F

GO

Isoform 5 (identifier: P07101-5) [UniParc]FASTA Add to basket

Also known as: hTH-Delta2,8,9

The sequence of this isoform differs from the canonical sequence as follows:
35-61: Missing.
264-357: Missing.

« Hide

        10         20         30         40         50
MPTPDATTPQ AKGFRRAVSE LDAKQAEAIM VRGQSPRFIG RRQSLIEDAR 
        60         70         80         90        100
KEREAAVAAA AAAVPSEPGD PLEAVAFEEK EGKAVLNLLF SPRATKPSAL 
       110        120        130        140        150
SRAVKVFETF EAKIHHLETR PAQRPRAGGP HLEYFVRLEV RRGDLAALLS 
       160        170        180        190        200
GVRQVSEDVR SPAGPKVPWF PRKVSELDKC HHLVTKFDPD LDLDHPGFSD 
       210        220        230        240        250
QVYRQRRKLI AEIAFQYRHG DPIPRVEYTA EEIATWDCCH ELLGHVPMLA 
       260        270        280        290        300
DRTFAQFSQD IGLASLGASD EEIEKLSTLY WFTVEFGLCK QNGEVKAYGA 
       310        320        330        340        350
GLLSSYGELL HCLSEEPEIR AFDPEAAAVQ PYQDQTYQSV YFVSESFSDA 
       360        370        380        390        400
KDKLRSYASR IQRPFSVKFD PYTLAIDVLD SPQAVRRSLE GVQDELDTLA 

HALSAIG

Note: Lacks catalytic activity.

Show »

Length:407

Mass (Da):45,338

Checksum:ⁱ71FB6BA8A6061F44

GO

Isoform 6 (identifier: P07101-6) [UniParc]FASTA Add to basket

Also known as: hTH-Delta1b,2,8,9

The sequence of this isoform differs from the canonical sequence as follows:
31-61: Missing.
264-357: Missing.

« Hide

        10         20         30         40         50
MPTPDATTPQ AKGFRRAVSE LDAKQAEAIM SPRFIGRRQS LIEDARKERE 
        60         70         80         90        100
AAVAAAAAAV PSEPGDPLEA VAFEEKEGKA VLNLLFSPRA TKPSALSRAV 
       110        120        130        140        150
KVFETFEAKI HHLETRPAQR PRAGGPHLEY FVRLEVRRGD LAALLSGVRQ 
       160        170        180        190        200
VSEDVRSPAG PKVPWFPRKV SELDKCHHLV TKFDPDLDLD HPGFSDQVYR 
       210        220        230        240        250
QRRKLIAEIA FQYRHGDPIP RVEYTAEEIA TWDCCHELLG HVPMLADRTF 
       260        270        280        290        300
AQFSQDIGLA SLGASDEEIE KLSTLYWFTV EFGLCKQNGE VKAYGAGLLS 
       310        320        330        340        350
SYGELLHCLS EEPEIRAFDP EAAAVQPYQD QTYQSVYFVS ESFSDAKDKL 
       360        370        380        390        400
RSYASRIQRP FSVKFDPYTL AIDVLDSPQA VRRSLEGVQD ELDTLAHALS 

AIG

Note: Lacks catalytic activity.

Show »

Length:403

Mass (Da):44,898

Checksum:ⁱDAD3F18191575F99

GO

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H0Y677	H0Y677_HUMAN	Tyrosine 3-monooxygenase Tyrosine 3-monooxygenase	TH	116	Annotation score:
H0Y670	H0Y670_HUMAN	Tyrosine 3-monooxygenase Tyrosine 3-monooxygenase	TH	45	Annotation score:
E7EQI0	E7EQI0_HUMAN	Tyrosine 3-monooxygenase Tyrosine 3-monooxygenase	TH	48	Annotation score:
F8W8M5	F8W8M5_HUMAN	Tyrosine 3-monooxygenase Tyrosine 3-monooxygenase	TH	44	Annotation score:

Sequence cautionⁱ

The sequence AAA61173 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	373	R → H in AAI43615 (PubMed:15489334).Curated	1
Sequence conflictⁱ	401	Y → S in AAA61179 (PubMed:2887169).Curated	1
Sequence conflictⁱ	401	Y → S in CAA28908 (PubMed:2882428).Curated	1
Sequence conflictⁱ	401	Y → S in CAA68472 (PubMed:2888085).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_072862	19	S → C Found in a patient with ARSEGS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs766704202Ensembl.	1
Natural variantⁱVAR_014025	112	V → M Common polymorphism. 5 PublicationsCorresponds to variant dbSNP:rs6356EnsemblClinVar.	1
Natural variantⁱVAR_072863	207	C → Y in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072864	227	D → G in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_014026	233	R → H in ARSEGS; loss of over 80% of tyrosine hydroxylase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa. 4 PublicationsCorresponds to variant dbSNP:rs80338892EnsemblClinVar.	1
Natural variantⁱVAR_014027	236	L → P in ARSEGS; severe parkinsonian symptoms in early infancy; strongly reduced stability and catalytic activity; rare mutation. 3 PublicationsCorresponds to variant dbSNP:rs121917763EnsemblClinVar.	1
Natural variantⁱVAR_072865	241	A → T in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072866	246	H → Y in ARSEGS; loss of about 40% of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072867	247	G → S in ARSEGS; loss of about 50% of tyrosine hydroxylase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa. 2 PublicationsCorresponds to variant dbSNP:rs762304556Ensembl.	1
Natural variantⁱVAR_071715	251	P → L in ARSEGS. 1 Publication	1
Natural variantⁱVAR_072868	259	E → G in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_014028	276	T → P in ARSEGS; parkinsonian symptoms in infancy; no effect on tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs28934581EnsemblClinVar.	1
Natural variantⁱVAR_071716	279	C → F in ARSEGS. 1 Publication	1
Natural variantⁱVAR_072869	294	G → R in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs755536257EnsemblClinVar.	1
Natural variantⁱVAR_071717	296	R → Q in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs199961079Ensembl.	1
Natural variantⁱVAR_072870	301	P → A in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072871	309	F → S in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_014029	314	T → M in ARSEGS; parkinsonian symptoms in infancy; loss of about 80% of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs121917764EnsemblClinVar.	1
Natural variantⁱVAR_071718	315	G → S in ARSEGS. 2 PublicationsCorresponds to variant dbSNP:rs1288483479Ensembl.	1
Natural variantⁱVAR_072872	319	R → P in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072873	328	R → W in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_014030	337	R → H in ARSEGS; parkinsonian symptoms in infancy; no effect on tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs28934580EnsemblClinVar.	1
Natural variantⁱVAR_072874	359	C → F in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs121917765EnsemblClinVar.	1
Natural variantⁱVAR_072875	375	F → L in ARSEGS; loss of over 80% of tyrosine hydroxylase activity; shifted substrate specificity from tyrosine to phenylalanine and Dopa. 2 Publications	1
Natural variantⁱVAR_072876	376	A → V in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_071719	382	I → T in ARSEGS. 1 Publication	1
Natural variantⁱVAR_072877	385	A → V in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs763039181Ensembl.	1
Natural variantⁱVAR_072878	387	L → M in ARSEGS; no effect on tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072879	394	I → T in ARSEGS; complete loss of tyrosine hydroxylase activity. 3 Publications	1
Natural variantⁱVAR_072880	399	T → M in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs1057520384Ensembl.	1
Natural variantⁱVAR_072881	408	G → R in ARSEGS. 1 PublicationCorresponds to variant dbSNP:rs745551241EnsemblClinVar.	1
Natural variantⁱVAR_014031	412	Q → K in ARSEGS; loss of over 80% of tyrosine hydroxylase activity; reduced affinity for L-tyrosine. 3 PublicationsCorresponds to variant dbSNP:rs121917762EnsemblClinVar.	1
Natural variantⁱVAR_072882	414	G → R in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 3 PublicationsCorresponds to variant dbSNP:rs370962049Ensembl.	1
Natural variantⁱVAR_071720	428	G → R in ARSEGS; phenotype with prominent levodopa-responsive myoconus-dystonia (M-D). 2 Publications	1
Natural variantⁱVAR_072883	441	R → P in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs367874223Ensembl.	1
Natural variantⁱVAR_072884	467	S → G in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 2 Publications	1
Natural variantⁱVAR_072885	492	P → L in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs767635052Ensembl.	1
Natural variantⁱVAR_014032	494	T → M in ARSEGS; parkinsonian symptoms in infancy; no effect on tyrosine hydroxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs45471299EnsemblClinVar.	1
Natural variantⁱVAR_072886	498	D → G in ARSEGS; loss of over 80% of tyrosine hydroxylase activity. 4 PublicationsCorresponds to variant dbSNP:rs771351747Ensembl.	1
Natural variantⁱVAR_014033	499	V → M1 PublicationCorresponds to variant dbSNP:rs1800033EnsemblClinVar.	1
Natural variantⁱVAR_072887	510	L → Q in ARSEGS; complete loss of tyrosine hydroxylase activity. 2 Publications	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_000544	31 – 61	Missing in isoform 2 and isoform 6. 3 PublicationsAdd BLAST	31
Alternative sequenceⁱVSP_000543	31 – 34	Missing in isoform 1. 1 Publication	4
Alternative sequenceⁱVSP_000541	35 – 61	Missing in isoform 4 and isoform 5. 2 PublicationsAdd BLAST	27
Alternative sequenceⁱVSP_054338	264 – 357	Missing in isoform 5 and isoform 6. 1 PublicationAdd BLAST	94

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M17589 mRNA Translation: AAA61179.1 X05290 mRNA Translation: CAA28908.1 Y00414 mRNA Translation: CAA68472.1 DQ677336 mRNA Translation: ABG73364.1 DQ677337 mRNA Translation: ABG73365.1 AC132217 Genomic DNA No translation available. M24791, M24787, M24789 Genomic DNA Translation: AAA61173.1 Sequence problems. CH471158 Genomic DNA Translation: EAX02493.1 BC104967 mRNA Translation: AAI04968.1 BC143611 mRNA Translation: AAI43612.1 BC143614 mRNA Translation: AAI43615.1 M24791, M24787 Genomic DNA Translation: AAA61170.1 M20911 mRNA Translation: AAA61167.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS31338.1 [P07101-2] CCDS7730.1 [P07101-3] CCDS7731.1 [P07101-1]
PIRⁱ	A30002 WHHUY4
NCBI Reference Sequences More...RefSeqⁱ	NP_000351.2, NM_000360.3 [P07101-3] NP_954986.2, NM_199292.2 [P07101-1] NP_954987.2, NM_199293.2 [P07101-2] XP_011518637.1, XM_011520335.2 [P07101-4]
UniGeneⁱ	Hs.435609

Genome annotation databases

Ensemblⁱ	ENST00000333684; ENSP00000328814; ENSG00000180176 [P07101-6] ENST00000352909; ENSP00000325951; ENSG00000180176 [P07101-3] ENST00000381175; ENSP00000370567; ENSG00000180176 [P07101-2] ENST00000381178; ENSP00000370571; ENSG00000180176 [P07101-1]
GeneIDⁱ	7054
KEGGⁱ	hsa:7054
UCSC genome browser More...UCSCⁱ	uc001lvp.3 human [P07101-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Protein	Similar proteins		Species	Score	Length	Source
P07101	Tyrosine 3-monooxygenase type 3 and 4 (Fragment)		PONPY		27	UniRef100_P07101
Tyrosine 3-monooxygenase type 1 and 2 (Fragment)		PANTR		45
Tyrosine 3-monooxygenase type 1 and 2 (Fragment)		western gorilla		45
Tyrosine hydroxylase (Fragment)		HUMAN		65
Tyrosine hydroxylase (Fragment)		HUMAN		138
+1
P07101-2	Tyrosine hydroxylase (Fragment)		HUMAN		134	UniRef100_P07101-2
P07101-3	Uncharacterized protein		PANPA		497	UniRef100_A0A2R9BE28
P07101-4	Tyrosine hydroxylase (Fragment)		HUMAN		106	UniRef100_P07101-4
Tyrosine hydroxylase (Fragment)		HUMAN		111
P07101-5	TH isoform 8 (Fragment)		PONAB		115	UniRef100_P07101-5
TH isoform 8 (Fragment)		PANTR		115
P07101-6	Uncharacterized protein		PANPA		403	UniRef100_A0A2R9BE39

Protein	Similar proteins		Species	Score	Length	Source
P07101	Tyrosine 3-monooxygenase type 3 and 4 (Fragment)		PONPY		27	UniRef90_P07101
Tyrosine 3-monooxygenase type 1 and 2 (Fragment)		PANTR		45
Tyrosine 3-monooxygenase type 1 and 2 (Fragment)		western gorilla		45
Tyrosine hydroxylase (Fragment)		HUMAN		65
Uncharacterized protein		CERAT		549
+39
P07101-3	Isoform 4 of Tyrosine 3-monooxygenase		HUMAN		501	UniRef90_P07101-4
Tyrosine hydroxylase		SAIBB		528
Uncharacterized protein		AOTNA		524
Uncharacterized protein		MACMU		508
Uncharacterized protein		MACFA		501
+37
P07101-4	Tyrosine hydroxylase (Fragment)		HUMAN		106	UniRef90_P07101-4
Tyrosine hydroxylase		SAIBB		528
Uncharacterized protein		AOTNA		524
Uncharacterized protein		MACMU		508
Uncharacterized protein		MACFA		501
+37
P07101-5	TH isoform 8 (Fragment)		PONAB		115	UniRef90_P07101-5
TH isoform 8 (Fragment)		PANTR		115
Uncharacterized protein		Cebus capucinus imitator		403
Tyrosine hydroxylase		CALJA		403
Uncharacterized protein		PAPAN		403
+26
P07101-6	Isoform 5 of Tyrosine 3-monooxygenase		HUMAN		407	UniRef90_P07101-5
TH isoform 8 (Fragment)		PONAB		115
TH isoform 8 (Fragment)		PANTR		115
Uncharacterized protein		Cebus capucinus imitator		403
Tyrosine hydroxylase		CALJA		403
+26

Protein	Similar proteins		Species	Score	Length	Source
P07101	Tyrosine 3-monooxygenase		PHASP		491	UniRef50_P07101
Tyrosine 3-monooxygenase		MOUSE		498
Tyrosine 3-monooxygenase	)	RAT		498
Tyrosine 3-monooxygenase		CANLF		495
Tyrosine 3-monooxygenase type 3 and 4 (Fragment)		PONPY		27
+236
P07101-5	TH isoform 8 (Fragment)		PONAB		115	UniRef50_P07101-5
TH isoform 8 (Fragment)		PANTR		115
Tyrosine hydroxylase		CALJA		403
Uncharacterized protein		PROCO		403
Tyrosine hydroxylase		SAIBB		403
+31
P07101-6	Isoform 5 of Tyrosine 3-monooxygenase		HUMAN		407	UniRef50_P07101-5
TH isoform 8 (Fragment)		PONAB		115
TH isoform 8 (Fragment)		PANTR		115
Tyrosine hydroxylase		CALJA		403
Uncharacterized protein		PROCO		403
+31

Cross-referencesⁱ

Web resourcesⁱ

Wikipedia

Tyrosine hydroxylase entry

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M17589 mRNA Translation: AAA61179.1 X05290 mRNA Translation: CAA28908.1 Y00414 mRNA Translation: CAA68472.1 DQ677336 mRNA Translation: ABG73364.1 DQ677337 mRNA Translation: ABG73365.1 AC132217 Genomic DNA No translation available. M24791, M24787, M24789 Genomic DNA Translation: AAA61173.1 Sequence problems. CH471158 Genomic DNA Translation: EAX02493.1 BC104967 mRNA Translation: AAI04968.1 BC143611 mRNA Translation: AAI43612.1 BC143614 mRNA Translation: AAI43615.1 M24791, M24787 Genomic DNA Translation: AAA61170.1 M20911 mRNA Translation: AAA61167.1
CCDSⁱ	CCDS31338.1 [P07101-2] CCDS7730.1 [P07101-3] CCDS7731.1 [P07101-1]
PIRⁱ	A30002 WHHUY4
RefSeqⁱ	NP_000351.2, NM_000360.3 [P07101-3] NP_954986.2, NM_199292.2 [P07101-1] NP_954987.2, NM_199293.2 [P07101-2] XP_011518637.1, XM_011520335.2 [P07101-4]
UniGeneⁱ	Hs.435609

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2XSN	X-ray	2.68	A/B/C/D	193-528	[»]
	4J6S	X-ray	3.08	E/F/G/H	1-74	[»]
ProteinModelPortalⁱ	P07101
SMRⁱ	P07101
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	112912, 13 interactors
ELMⁱ	P07101
IntActⁱ	P07101, 14 interactors
MINTⁱ	P07101
STRINGⁱ	9606.ENSP00000370571

Chemistry databases

BindingDBⁱ	P07101
ChEMBLⁱ	CHEMBL1969
DrugBankⁱ	DB00120 L-Phenylalanine DB00135 L-Tyrosine DB03552 Meta-Tyrosine DB00765 Metyrosine DB00360 Sapropterin

PTM databases

iPTMnetⁱ	P07101
PhosphoSitePlusⁱ	P07101

Polymorphism and mutation databases

BioMutaⁱ	TH
DMDMⁱ	239938945

Proteomic databases

PaxDbⁱ	P07101
PeptideAtlasⁱ	P07101
PRIDEⁱ	P07101
ProteomicsDBⁱ	51950 51951 [P07101-2] 51952 [P07101-3] 51953 [P07101-4]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000333684; ENSP00000328814; ENSG00000180176 [P07101-6] ENST00000352909; ENSP00000325951; ENSG00000180176 [P07101-3] ENST00000381175; ENSP00000370567; ENSG00000180176 [P07101-2] ENST00000381178; ENSP00000370571; ENSG00000180176 [P07101-1]
GeneIDⁱ	7054
KEGGⁱ	hsa:7054
UCSCⁱ	uc001lvp.3 human [P07101-1]

Organism-specific databases

CTDⁱ	7054
DisGeNETⁱ	7054
EuPathDBⁱ	HostDB:ENSG00000180176.14
GeneCardsⁱ	TH
GeneReviewsⁱ	TH
H-InvDBⁱ	HIX0035928
HGNCⁱ	HGNC:11782 TH
HPAⁱ	CAB002522 CAB072340 HPA013768 HPA061003
MalaCardsⁱ	TH
MIMⁱ	191290 gene 605407 phenotype
neXtProtⁱ	NX_P07101
OpenTargetsⁱ	ENSG00000180176
Orphanetⁱ	101150 Autosomal recessive dopa-responsive dystonia
PharmGKBⁱ	PA351
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3820 Eukaryota COG3186 LUCA
GeneTreeⁱ	ENSGT00390000010268
HOGENOMⁱ	HOG000233373
HOVERGENⁱ	HBG006841
InParanoidⁱ	P07101
KOⁱ	K00501
OMAⁱ	PHLEYFV
OrthoDBⁱ	EOG091G05MZ
PhylomeDBⁱ	P07101
TreeFamⁱ	TF313327

Enzyme and pathway databases

UniPathwayⁱ	UPA00747;UER00733
BRENDAⁱ	1.14.16.2 2681
Reactomeⁱ	R-HSA-209905 Catecholamine biosynthesis
SIGNORⁱ	P07101

Miscellaneous databases

GeneWikiⁱ	Tyrosine_hydroxylase
GenomeRNAiⁱ	7054
Protein Ontology More...PROⁱ	PR:P07101
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000180176 Expressed in 85 organ(s), highest expression level in substantia nigra
CleanExⁱ	HS_TH
ExpressionAtlasⁱ	P07101 baseline and differential
Genevisibleⁱ	P07101 HS

Family and domain databases

Gene3Dⁱ	1.10.800.10, 1 hit
InterProⁱ	View protein in InterPro IPR001273 ArAA_hydroxylase IPR018301 ArAA_hydroxylase_Fe/CU_BS IPR036951 ArAA_hydroxylase_sf IPR036329 Aro-AA_hydroxylase_C_sf IPR019774 Aromatic-AA_hydroxylase_C IPR005962 Tyr_3_mOase IPR019773 Tyrosine_3-monooxygenase-like IPR021164 Tyrosine_hydroxylase_CS
PANTHERⁱ	PTHR11473 PTHR11473, 1 hit
Pfamⁱ	View protein in Pfam PF00351 Biopterin_H, 1 hit PF12549 TOH_N, 3 hits
PIRSFⁱ	PIRSF000336 TH, 1 hit
PRINTSⁱ	PR00372 FYWHYDRXLASE
SUPFAMⁱ	SSF56534 SSF56534, 1 hit
TIGRFAMsⁱ	TIGR01269 Tyr_3_monoox, 1 hit
PROSITEⁱ	View protein in PROSITE PS00367 BH4_AAA_HYDROXYL_1, 1 hit PS51410 BH4_AAA_HYDROXYL_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	TY3H_HUMAN
Accessionⁱ	P07101Primary (citable) accession number: P07101 Secondary accession number(s): B7ZL70 Q2M3B4
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	April 1, 1988
	Last sequence update:	June 16, 2009
	Last modified:	October 10, 2018
	This is version 207 of the entry and version 5 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
SIMILARITY comments
Index of protein domains and families
PATHWAY comments
Index of metabolic and biosynthesis pathways
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - P07101 (TY3H_HUMAN)

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Tyrosine 3-monooxygenase

TH

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: dopamine biosynthesis

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Cytosol

Endoplasmic reticulum

Mitochondrion

Nucleus

Plasma Membrane

Other locations

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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Functionⁱ

Pathwayⁱ: dopamine biosynthesis

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ